Have you or a loved one been diagnosed with a rare epilepsy? You can register for REN if you have been diagnosed with a rare epilepsy disorder or syndrome as long as it is related to epilepsy or seizures in the majority of people.

Rett syndrome is a rare, but severe brain disorder that affects girls. It's usually discovered in the first two years of life, and a child's diagnosis with Rett syndrome can feel overwhelming. Although there's no cure, early identification and treatment may help girls and families who are affected by Rett syndrome.

Eyelid myoclonia with absences (EMA), or Jeavons syndrome, is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure-induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic-clonic seizures may also occur. Although first described in 1977 and widely reported by several authors within the last few years, EMA has not been yet recognized as a definite epileptic syndrome. However, when strict criteria are applied to the diagnosis, EMA appears to be a distinctive condition that could be considered a myoclonic epileptic syndrome, with myoclonia limited to the eyelids, rather than an epileptic syndrome with absences.

The Phelan-McDermid Syndrome Foundation is delighted to announce PMS is one of the diseases included in the new “Developmental Synaptopathies Consortium” through the Rare Disease Clinical Research Network (RDCRN). This consortium includes PMS and two related disorders – Tuberous Sclerosis Complex and autism-associated PTEN mutations.

Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. Treatment involves antiepileptic medications to manage seizures, but they do not usually work well.

Angelman syndrome is a genetic disorder that causes developmental disabilities and neurological problems, such as difficulty speaking, balancing and walking and, in some cases, seizures. Frequent smiles and outbursts of laughter are common for people with Angelman syndrome, and many have happy, excitable personalities.

Angelman syndrome usually isn't detected until parents begin to notice developmental delays when a baby is about 6 to 12 months old. Seizures often begin when a child is between 2 and 3 years old.

Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The hallmark of SWS is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain (PWS).

Myoclonic-Astatic Epilepsy (MAE), or Doose Syndrome, is an epilepsy syndrome of early childhood that is often resistant to medication. For this reason, it can be difficult to treat. MAE is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures (idiopathic) and the seizures originate from all over the brain (generalized) as opposed to coming from one focal area. Onset of MAE occurs commonly in the first five yeas of life, with the mean age being three. Statistics show that it usually affects children who have previously developed normally, and boys are twice as likely as girls to develop MAE. In some cases, other family members (immediate or extended) may also have seizures. Read More Here

GeneDx is a highly respected genetic testing company founded in 2000 by two scientists from the National Institutes of Health (NIH) to address the needs of patients and clinicians concerned with rare inherited disorders. GeneDx offers sequencing and deletion/duplication testing for neurological disorders including seizure disorders, mitochondrial disorders, inherited cancer and cardiac disorders, and other rare genetic disorders. GeneDx also offers whole exome sequencing, next-generation sequencing, microarray-based testing, targeted mutation testing and prenatal diagnostic services. At GeneDx, our technical services are matched by our scientific expertise and customer support. Our growing staff includes more than 100 geneticists and genetic counselors specializing in clinical genetics, molecular genetics, metabolic genetics and cytogenetics who are just a phone call or email away.

We invite you to visit our website at www.genedx.com to learn more about us and the services we offer.

Only genetic changes known to cause epilepsy will be reported back to your doctor. While genetic factors play a role in every epilepsy, not everyone’s epilepsy will have a clear genetic cause. Because of this, finding a cause for your epilepsy cannot be guaranteed from EGI.

Over the years, the AES has taken steps to implement our purposes by developing educational courses and symposia. In 1984, a special task force was appointed to see how the Society could attract basic neuroscientists. In addition, Investigators' Workshops were organized to integrate basic neurosciences into the life of our Society. In 1988, a concerted effort began to address issues on Childhood Onset Epilepsy and to shape our Society into an active, rather than a reactive mode, by identifying educational and investigative priorities.

The American Epilepsy Society (AES) website is the ‘home’ of professionals involved in the care of people with seizures and epilepsy. Here you will find information about the Society, programs available for members, as well as educational programs and news available to all professionals with an interest in epilepsy.

OKBTF is a nonprofit advocacy organization that provides outpatient behavioral health services for Oklahoma families who have a family member, child or adult, who have been diagnosed with a brain tumor. We are dedicated to meeting the needs of Oklahoma families, caregivers and patients affected by primary brain or central nervous system tumors. We work to provide for needs through programs that address families emotional, physical, and spiritual needs.

To achieve our goals, the DDF engages physicians and researchers in the fields of neurology and epileptology; we collaborate with medical technology companies; we consult with epilepsy organizations, and we interact with all those affected by Danny’s story. We ask doctors to talk about SUDEP, and we offer ourselves as an outlet to which doctors can steer patients. We create informational pieces about safety in epilepsy in general and SUDEP in particular. We pursue the latest seizure detection and seizure prediction technologies, and once identified as viable and worthwhile instruments, we work to get these products approved by the United States Food and Drug Administration and then covered by insurance companies. We view these devices as complimentary to medicinal, surgical, and dietary measures that are used to treat seizures, and –with SUDEP accounting from an estimated 20 percent of seizure-related deaths– we believe that there is no such thing as too much prevention.

Seizures can sometimes be fatal from a range of causes; more people die as a result of seizures than from fires and sudden infant death syndrome (SIDS) combined. Thousands of deaths occur annually from SUDEP, status epilepticus (prolonged seizures), and other seizure-related causes such as drowning and other accidents.

People with nonepileptic seizures (NES) have periods of seizure-like activity. NES are characterized by a loss of or change in physical function without a central nervous system problem. The loss or change causes periods of physical activity or inactivity that resemble epileptic seizures. A person can have both nonepileptic and epileptic seizures.

This website is maintained by Eric H. Chudler, Ph.D. and was supported by a Science Education Partnership Award (R25 RR12312) from the National Center for Research Resources (NCRR). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of NCRR or NIH.

A volunteer-based, non-profit organization dedicated to aggressively raising research funds for Dravet syndrome, a rare and catastrophic form of epilepsy beginning in childhood, and related conditions. By offering research grants for syndrome-specific research with a novel approach, the DSF can move researchers and the medical community forward to find better treatments and a cure while assisting afflicted individuals and their families.

ILAE's mission is to ensure that health professionals, patients and their care providers, governments, and the public world-wide have the educational and research resources that are essential in understanding, diagnosing and treating persons with epilepsy.

The purpose of Sooner SUCCESS is to promote a comprehensive, coordinated system of health, social and educational services for Oklahoma children and youth with special needs...in their Community. Sooner SUCCESS addresses barriers by promoting community capacity and infrastructure spread in communities and at regional and state levels.

TEFRA (Tax Equity and Fiscal Responsibility Act of 1982) gives states the option to make Medicaid (SoonerCare in Oklahoma) benefits available to children with physical or mental disabilities who would not ordinarily be eligible for Supplemental Security Income (SSI) benefits because of their parent's income or resources. This option allows children who are eligible for institutional services to be cared for in their homes.

Sibshops acknowledge that being the brother or sister of a person with special needs is for some a good thing, others a not-so-good thing, and for many, somewhere in-between. They reflect a belief that brothers and sisters have much to offer one another — if they are given a chance. Sibshops are a spirited mix of new games (designed to be unique, off-beat, and appealing to a wide ability range), new friends, and discussion activities.

The purpose of Sooner SUCCESS is to promote a comprehensive, coordinated system of health, social and educational services for Oklahoma children and youth with special needs...in their Community. Sooner SUCCESS addresses barriers by promoting community capacity and infrastructure spread in communities and at regional and state levels.

The Brain Injury Alliance of Oklahoma (BIA-OK) is Oklahoma's foremost advocacy organization for survivors of brain injury. As a non-profit organization, we strive to educate survivors, family members, professionals, and the public about all matters related to brain injury

Lennox-Gastaut syndrome (LGS) is a rare and often debilitating form of childhood-onset epilepsy. The syndrome is characterized by a triad of signs including multiple seizure types, moderate to severe cognitive impairment, and an abnormal EEG with slow spike- wave complexes. LGS constitutes between 1-4% of pediatric epilepsies and typically appears between the second and sixth year of life.

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. Here, we describe the phenotype of a severe form of neurodevelopmental disease in a female patient with a de novo nonsense mutation of the CDKL5 gene c.175C > T (p.R59X) affecting the catalytic domain of CDKL5 protein. Mutations in the CDKL5 gene are less common in males and can be associated with a genomic deletion as found in our male patient with a deletion of 0.3 Mb at Xp22.13 including the CDKL5 gene. We review phenotypes associated with CDKL5 mutations and examine putative relationships between the clinical epilepsy phenotype and the type of the mutation in the CDKL5 gene.

Seizure clusters are frightening, frustrating, and unpredictable. No two people living with seizures or seizure clusters will experience them in the same way. Although seizure clusters are described as seizures that happen one after the other over a short period of time, there is not a single definition among people who experience them. In the United States, 152,000 people are estimated to be affected by seizure clusters. That's why a new way to connect people living with seizure clusters has been developed—introducing the Seizure Clusters Connect Community.

Are you or a loved one struggling with difficult emotional or psychological issues? These conditions are common but can cause great distress and disability. Depression can lead to a person losing interest in life, anxiety can cause a person to isolate themselves and both conditions limit a person from achieving their full potential. Yet if identified and treated appropriately these conditions can be completely overcome.

Our Mission

The mission of the Epilepsy Foundation is to lead the fight to overcome the challenges of living with epilepsy and to accelerate therapies to stop seizures, find cures, and save lives.